Rancho couple seeks answers to rare disease

Feb. 28, 2012

Updated Aug. 21, 2013 1:17 p.m.

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Rick and Cristy Spooner are happy their two special needs daughters, Cali, 13, and Ryann, 2, are healthy and happy. They hope one day the girls will be independent and be a contributing member of the community. REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

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Ryann Spooner, 2, and her sister, Cali, 13, are unable to walk and speak. Cali is in a special education class in 8th grade at Newhart Middle School. Her best friend there is Megan and on Tuesday night she showed off a necklace she had made at school that day. Her grandmother Judy Visher said Cali calls what she does at school, "work." REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

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Rick, 40, and Cristy, 34, said they want their daughters to become as independent as possible. The couple, who also own a national notary service, say they get lots of help from their family, friends and co-workers. REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

Rick Spooner said it was devastating when he and Cristy were told that the disease is genetic. Now the couple hope a doctor somewhere might take on their cause and look for what the disease is. REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

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Cali Spooner, 13, tries to stand on her own. She needs a walker to get around. Her parents have put her through countless types of therapy. She is making some improvements, they said. REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

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Cristy Spooner said Ryann, 2, is making more strides than Cali was at that age. The couple is hopeful that she may walk on her own one day. She, like her older sister, uses a walker now to get around. REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

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Rick and Cristy Spooner run their own business while taking care of their daughters. They often hold business meetings on their daily runs. REPORTED BY ERIKA I, RITCHIE, PHOTO ROSE PALMISANO

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Ryann Spooner, 2, is a happy little girl. Since she can't walk, she tries to lift herself into a kind of tall crawl. The spunky little girl is outgoing and friendly with anyone she meets. REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

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The Spooners are hopeful both their daughters will walk one day. In the meantime they give them as much love, support and therapy as they can. REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

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“It was devastating,” said Rick Spooner, 40. “The doctor said it was genetic and told us it was would be more common to win the lottery twice than it would be to meet someone who has the same recessive gene.” REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

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The Spooners are working with The Global Genes Project to raise awareness and funding for rare disease research. More than 35 million people in the word suffer from rare diseases, many who have no advocacy or support because they are mostly unknown. REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

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The Spooners are hopeful their story can shed light on people worldwide who fight rare diseases. As part of promoting awareness the Rancho Santa Margarita couple has joined with Nicole Boice, of Dana Point, who founded the Rare Diseases, Advocacy, Research and Education project. On Wednesday, national Rare Disease Day, supporters will wear jeans to support the effort. REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

Rick and Cristy Spooner are happy their two special needs daughters, Cali, 13, and Ryann, 2, are healthy and happy. They hope one day the girls will be independent and be a contributing member of the community.REPORTED BY ERIKA I. RITCHIE, PHOTO ROSE PALMISANO

RANCHO SANTA MARGARITA – A year ago, Cristy and Rick Spooner walked out of a doctor's office after being told he had no idea what was causing two of their daughters to be debilitated with a disease that prevents them from walking, talking and in any way taking care of themselves.

"It was devastating," said Rick Spooner, 40. "The doctor said it was genetic and told us it would be more common to win the lottery twice than it would be to meet someone who has the same recessive gene."

After dozens of tests, including MRI's, scans, X-rays and vials and vials of blood, the only thing doctors do know is that Cali, 13, and Ryann, 2, have an abnormal pattern of cells on a part of the brain that causes them to be cognitively delayed, unable to speak and only move around with their walkers.

The girls need assistance going to the bathroom and eating. Medical records have been sent to doctors around the world — including to a university research group and to the Mayo Clinic — and no one knows what disease they have.

The Spooners are hopeful their story can shed light on people worldwide who fight rare diseases. As part of promoting awareness the Rancho Santa Margarita couple has joined with Nicole Boice, of Dana Point, who founded the Rare Diseases, Advocacy, Research and Education project. On Wednesday, World Rare Disease Day, supporters will wear jeans to support the effort.

Boice said research indicates there are more than 350 million people battling rare diseases worldwide — 75 percent are children. To help families such as the Spooners, R.A.R.E. has launched The Global Genes Project to raise financial support for disease databases, fund peer reviewed multi-disease project and impact policy and fund disease research foundations. Fifty percent of rare diseases have little or no individual advocacy group driving awareness and support, Boice said. In the last 25 years, only 350 new drugs for fighting 7000 rare diseases have been approved by the FDA.

"Rare disease is not rare in that there are millions of parents like Rick and Cristy advocating on behalf of their children with little to no broad support," said Boice. "Rare diseases affect more people globally than any other disease, more than AIDS and all cancers combined."

The Spooners' journey into this world of the unknown began when Cali was just eight months old. She looked perfect. But when she couldn't crawl and sit, the couple became concerned. A neurologist found nothing conclusive other than a spot on the cerebellum was revealed.

Her parents took her to the Mayo Clinic. Doctors there said whatever it was, was "extremely rare." At that time they didn't believe it was genetic because all her physical features were fine, Cristy Spooner said.

The couple, who own and run a Mission Viejo-based national notary service, used their resources to get Cali the only help they could — therapy. She's had and continues with speech, vocational, aquatic and equestrian therapies.

Meanwhile, the couple researched and waited to see if doctors found any genetic defect. After more than six years, hoping there was no genetic tie, they had their second daughter, Raelynn, 6. She was born free of the disease. Hopeful, they tried again three years ago for a boy.

The boy turned out to be a blonde little girl named Ryann. For months everything seemed fine. Then when she was 9-months-old and hadn't started to crawl, the couple fears — gone for years — came back.

Doctors at CHOC at Mission found the same odd pattern of cells on her brain. With Ryann's diagnosis, doctors confirmed that the disease was genetic. The Spooners were told there would be a 25 percent chance their children would get the disease.

A second geneticist recommended the family submit all their medical history to university research groups. They're hoping one doctor or a group might be the one to take on their case.

"Most likely we'll they will never provide answers for us," Cristy Spooner said. "We can submit all our family history and maybe for future families and generations, they might find some comparisons."

In the meantime, the family is happy and deals with the girls' special needs. Sister Raelynn likes having her special sisters but still blows out her birthday candles every year with the same wish. "I want my sisters to walk and talk and play soccer with me," the 5-year-old said.

"Our goal is to get them as independent as possible," Cristy Spooner said. "They'll probably live with us for the rest of our lives but we want them to be an active part of the community."

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